Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone

Autor: Francesco Chiofalo, Carlotta Marzocchi, Maccora Carla, Maria Grazia Castagna, Maria Teresa Dotti, Silvia Cantara, Fabio Giannini, Cristina Ciuoli

Publikováno v: AACE Clinical Case Reports, Vol 5, Iss 2, Pp e132-e137 (2019)

Objective: Myotonic dystrophy (DM) is a monogenic disorder. It is caused by expansion of a cytosine-thymineguanine triplet in the DMPK gene which encodes for myotonic dystrophy protein kinase (DMPK).Methods: A 24-year-old man with DM and the DMPK mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0209badb1380e7cebed48dd6495b0391
http://www.sciencedirect.com/science/article/pii/S2376060520305228

Weight Loss Associated with Bariatric Surgery Does Not Restore Short Telomere Length of Severe Obese Patients After 1 Year

Autor: Furio Pacini, Cristina Ciuoli, Giuseppina Colasanto, Andrea Tirone, Francesco Chiofalo, Ornella Neri, Federico Selmi, Giuseppe Vuolo, Silvia Cantara, Leonardo Di Cosmo, Caterina Formichi

Publikováno v: Obesity Surgery. 24:2089-2093

Telomere shortening is physiologically associated with ageing but it may be influenced by oxidative stress and chronic inflammation, linked to obesity. Thus, obesity might represent an additional cause of telomere attrition. We aim to study relative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cd00b1771addebd5ea8fe86eac1e14
https://doi.org/10.1007/s11695-014-1300-4

Thyroid Neoplasia

Autor: Furio Pacini, Francesco Chiofalo, Leslie J De Groot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fa4e953c7e932242340ca54278eca8
https://doi.org/10.1016/b978-0-323-18907-1.00092-5

Contributors

Autor: Lloyd Paul Aiello, Kyriaki S. Alatzoglou, Erik K. Alexander, Carolyn A. Allan, Bruno Allolio, Nobuyuki Amino, Bradley D. Anawalt, Peter Angelos, Valerie A. Arboleda, Richard J. Auchus, Lloyd Axelrod, Rebecca S. Bahn, H.W. Gordon Baker, MD, PhD, FRACP, Shlomi Barak, Randall B. Barnes, Andreas Barthel, Murat Bastepe, Emma K. Beardsley, Paolo Beck-Peccoz, Graeme I. Bell, Wenya Linda Bi, John P. Bilezikian, Manfred Blum, Steen J. Bonnema, Stefan R. Bornstein, Roger Bouillon, Andrew J.M. Boulton, Glenn D. Braunstein, F. Richard Bringhurst, Frank J. Broekmans, Marcello D. Bronstein, Edward M. Brown, Wendy A. Brown, Serdar E. Bulun, Henry B. Burch, Henry G. Burger, Richard O. Burney, Morton G. Burt, Enrico Cagliero, Glenda G. Callender, Maria Luiza Avancini Caramori, Robert M. Carey, Tobias Carling, Francesco Cavagnini, Jerry D. Cavallerano, Etienne Challet, Shu Jin Chan, R. Jeffrey Chang, Roland D. Chapurlat, V. Krishna Chatterjee, Francesco Chiofalo, Luca Chiovato, Kyung J. Cho, Emily Christison-Lagay, Daniel Christophe, George P. Chrousos, John A. Cidlowski, David R. Clemmons, Robert V. Considine, Marco Conti, Georges Copinschi, Kyle D. Copps, Michael A. Cowley, Leona Cuttler, Mehul T. Dattani, Stephen N. Davis, Mario De Felice, Leslie J. De Groot, David M. de Kretser, Ralph A. DeFronzo, Ahmed J. Delli, Marie B. Demay, Michael C. Dennedy, Roberto Di Lauro, Rosemary Dineen, Su Ann Ding, Sean F. Dinneen, Daniel J. Drucker, Jacques E. Dumont, Kathleen M. Dungan, Ian F. Dunn, Michael J. Econs, David A. Ehrmann, Graeme Eisenhofer, Berrin Ergun-Longmire, Erica A. Eugster, Sadaf I. Farooqi, Martin Fassnacht, Bart C.J.M. Fauser, Gianfranco Fenzi, Ele Ferrannini, David M. Findlay, Courtney Anne Finlayson, Delbert A. Fisher, Isaac R. Francis, Mason W. Freeman, Lawrence A. Frohman, Mark Frydenberg, Peter J. Fuller, Jason L. Gaglia, Gianluigi Galizia, Thomas J. Gardella, Katharine C. Garvey, Harry K. Genant, Michael S. German, Evelien F. Gevers, Francesca Pecori Giraldi, Linda C. Giudice, Andrea Giustina, Anna Glasier, Francis H. Glorieux, Allison B. Goldfine, Louis J. Gooren, David F. Gordon, Karen A. Gregerson, Raymon H. Grogan, Milton D. Gross, Ashley B. Grossman, Matthias Gruber, Valeria C. Guimarães, Mark Gurnell, Nadine G. Haddad, Daniel J. Haisenleder, David J. Handelsman, John B. Hanks, Mark J. Hannon, Erika Harno, Matthias Hebrok, Mark P. Hedger, Laszlo Hegedüs, Jerrold J. Heindel, Arturo Hernandez, Maria K. Herndon, Ken K.Y. Ho, Nelson D. Horseman, Ieuan A. Hughes, Christopher J. Hupfeld, Hero K. Hussain, Valeria Iodice, Benjamin C. James, J. Larry Jameson, Glenville Jones, Nathalie Josso, Harald Jüppner, Agata Juszczak, Jeffrey Kalish, Edwin L. Kaplan, Niki Karavitaki, Monika Karczewska-Kupczewska, Ahmed Khattab, David C. Klein, Ronald Klein, Gunnar Kleinau, Michaela Koontz, John J. Kopchick, Peter Kopp, Irina Kowalska, Stephen M. Krane, Knut Krohn, Henry M. Kronenberg, Elizabeth M. Lamos, Andrea Lania, Sue Lynn Lau, Edward R. Laws, John H. Lazarus, Diana L. Learoyd, Harold E. Lebovitz, Åke Lenmark, Edward O. List, Kate Loveland, David A. Low, Paolo E. Macchia, Noel K. Maclaren, Geraldo Madeiros-Neto, Carine Maenhaut, Christa Maes, Katharina M. Main, Carl D. Malchoff, Diana M. Malchoff, Rayaz A. Malik, Susan J. Mandel, Christos S. Mantzoros, Eleftheria Maratos-Flier, Michele Marino, John C. Marshall, T. John Martin, Thomas F.J. Martin, Christopher J. Mathias, Elizabeth A. McGee, Travis McKenzie, Robert I. McLachlan, Juris J. Meier, Shlomo Melmed, Boyd E. Metzger, Heino F.L. Meyer-Bahlburg, Robert P. Millar, Walter L. Miller, Madhusmita Misra, Mark E. Molitch, Molly B. Moravek, Damian G. Morris, Sapna Nagar, Jon Nakamoto, Maria I. New, Lynnette K. Nieman, John H. Nilson, Georgia Ntali, Moira O’Bryan, Stephen O’Rahilly, Kjell Öberg, Jerrold M. Olefsky, Matthew T. Olson, Karel Pacak, Furio Pacini, Shetal H. Padia, Ralf Paschke, Francisco J. Pasquel, Katherine Wesseling Perry, Luca Persani, Louis H. Philipson, Christian Pina, Frank B. Pomposelli, John T. Potts, Charmian A. Quigley, Marcus O. Quinkler, Christine Campion Quirk, Ewa Rajpert-De Meyts, Eric Ravussin, David W. Ray, Samuel Refetoff, Ravi Retnakaran, Rodolfo A. Rey, Christopher J. Rhodes, E. Chester Ridgway, Gail P. Risbridger, Robert A. Rizza, Bruce G. Robinson, Pierre P. Roger, Michael G. Rosenfeld, Robert L. Rosenfield, Peter Rossing, Robert T. Rubin, Ileana G.S. Rubio, Neil B. Ruderman, Jose Russo, Irma H. Russo, Isidro B. Salusky, Nanette Santoro, Kathleen M. Scully, Patrick M. Sexton, Gerald I. Shulman, Paolo S. Silva, Shonni J. Silverberg, Frederick R. Singer, Niels E. Skakkebaek, Malgorzata E. Skaznik-Wikiel, Dorota Skowronska-Krawczyk, Carolyn L. Smith, Philip W. Smith, Roger Smith, Steven R. Smith, Peter J. Snyder, Donald L. St. Germain, René St-Arnaud, Donald F. Steiner, Paul M. Stewart, Marek Strączkowski, Jerome F. Strauss, Dennis M. Styne, Karena L. Swan, Ronald S. Swerdloff, Lyndal J. Tacon, Javier A. Tello, Rajesh V. Thakker, Christopher J. Thompson, Henri J.L.M. Timmers, Jorma Toppari, Michael L. Traub, Michael A. Tsoukas, Robert Udelsman, Guillermo E. Umpierrez, Greet Van den Berghe, Gilbert Vassart, Ashley H. Vernon, Eric Vilain, Theo J. Visser, Paolo Vitti, Geoffrey A. Walford, Christina Wang, Anthony P. Weetman, Nancy L. Weigel, Gordon C. Weir, Roy E. Weiss, Anne White, Kenneth E. White, Morris F. White, Michael P. Whyte, Wilmar M. Wiersinga, Holger S. Willenberg, Joseph I. Wolfsdorf, Fredric E. Wondisford, Ka Kit Wong, John J. Wysolmerski, Mabel Yau, Morag J. Young, Lisa M. Younk, Run Yu, Tony Yuen, Martha A. Zeiger, Bernard Zinman, R. Thomas Zoeller

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::052e98fd342096e0bba7cb16e76034dd
https://doi.org/10.1016/b978-0-323-18907-1.01002-7